Items Tagged ‘#neurological disorders’
June 21, 2022
By Susan Murphy 
A collaborative team of scientists led by Mayo Clinic’s Center for Individualized Medicine has discovered 15 additional genetic mutations in the KCNK9 gene that cause a neurodevelopmental syndrome. Symptoms of the disorder range from speech and motor impairment to behavioral abnormalities, intellectual disability and distinctive facial features.
Tags: #neurological disorders, center for individualized medicine, Dr. Margot Cousin, gene sequencing, genomics, medical research, personalized medicine
February 23, 2017
Using genetic testing to transform care for neurological disorders
By Sharon Rosen
Our nervous system is made up of complex biological pathways that control everything we do, including breathing, thinking, speaking, moving and feeling. For patients suffering from a neurological disorder such as Parkinson’s disease, epilepsy, nerve pain (neuropathy) and dementia, the symptoms of these conditions can impact many aspects of daily life. Some patients with unexplained […]
Tags: #Dr. Christopher Klein, #neurological diseases, #neurological disorders, #neurology, #targeted panel testing, #Tatiana Faroud, center for individualized medicine, DNA Testing, mayo clinic, Mayo Clinic Proceedings, whole exome sequencing, whole genome sequencing